Autosomal recessive congenital ichthyosis
Gene: SLC27A4Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer suggested this gene and recommended Green. It is associated with Ichthyosis prematurity syndrome, 608649, which overlaps with autosomal recessive congenital ichthyosis. Numerous variants reported.Created: 8 Jun 2016, 10:32 a.m.
FATP4 (SLC27A4) causes ichthyosis prematurity syndrome. There is a protein interaction with ichthyin (NIPAL4) and the phenotype in ichthyosis prematurity syndrome does overlap with ARCI - so there may be some cases that are more ARCI - maybe a level 2 evidence here. Kids are born prematurely and have respiratory difficulty often requiring ventilation - but the skin is clearly ARCI.Created: 18 Nov 2015, 2:50 p.m.
Phenotypes
Ichthyosis prematurity syndrome
Phenotypes for SLC27A4 were set to Ichthyosis prematurity syndrome, 608649
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC27A4 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC27A4 was added to Autosomal recessive congenital ichthyosispanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for SLC27A4 were set to Ichthyosis prematurity syndrome, 608649
This gene has been classified as Green List (High Evidence).
SLC27A4 was added to Autosomal recessive congenital ichthyosispanel. Sources: Expert Review
SLC27A4 was created by JAM22HP